Phenotype of autosomal dominant Alport syndrome with a likely pathogenic heterozygous variant in the COL4A3 gene (Gly366Arg) and incidental teratozoospermia: A case report.

Abstract excerpt

Autosomal dominant Alport syndrome (ADAS) is the least common form of Alport syndrome, the second most common monogenic cause of chronic kidney disease after autosomal dominant polycystic kidney disease. We report a 14-year follow-up of a patient with ADAS carrying a likely pathogenic heterozygous variant in COL4A3 (Gly366Arg substitution). The disease initially presented with microhematuria and no renal...

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